Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing

Sympathetic paragangliomas (PGLs) are rare neuroendocrine tumours originating from chromaffin cells, primarily in the thorax, abdomen, and pelvis. Paediatric PGLs are particularly uncommon, but they represent a notable cause of secondary hypertension in children. These tumours frequently have a genetic basis, with up to 40% of patients carrying germline mutations, including variants of unknown significance (VUS), which present diagnostic and management challenges.

In this case report, we describe a 10-year-old male who presented with seizures and hypertensive crisis, later diagnosed with a functional PGL. Biochemical tests confirmed elevated catecholamines, and imaging revealed a 3 cm para-aortic tumour. Genetic testing identified a heterozygous mutation in the FH gene classified as VUS. Surgical resection of the tumour was curative, with no recurrence after 2 years of follow-up.

This case underscores the complexities of interpreting VUS in paediatric PGL and highlights the need for long-term follow-up and further research into the clinical significance of these genetic findings.